ClinVar Miner

Submissions for variant NM_005631.5(SMO):c.2177G>A (p.Arg726Gln)

gnomAD frequency: 0.00078  dbSNP: rs142495470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987975 SCV001137510 uncertain significance Curry-Jones syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430682 SCV004161064 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SMO: BP4
ITMI RCV000122077 SCV000086292 not provided not specified 2013-09-19 no assertion provided reference population

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